Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa

Jingjing Jiang,Lijin Dong,Ningdong Li,Xiaodong Jiao,J Fielding Hejtmancik,Di Shen,Xiaofei Wu

doi:10.1038/srep44465

Jingjing Jiang, Lijin Dong + Show 5 more

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Mutations in RP2 and RPGR genes are responsible for the X-linked retinitis pigmentosa (XLRP). In this study, we analyzed the RP2 and RPGR gene mutations in five Han Chinese families with XLRP. An approximately 17Kb large deletion including the exon 4 and exon 5 of RP2 gene was found in an XLRP family. In addition, four frameshift mutations including three novel mutations of c.1059 + 1 G > T, c.2002dupC and c.2236_2237del CT, as well as a previously reported mutation of c.2899delG were detected in the RPGR gene in the other four families. Our study further expands the mutation spectrum of RP2 and RPGR, and will be helpful for further study molecular pathogenesis of XLRP.

Highlights

RP is inherited as an autosomal dominant trait in about 15–20% of families, an autosomal recessive trait in about 20–25% of families, and an X-linked trait in about 10–15% of families, with digenic patterns occurring rarely
The affected males had onset of night blindness around 7–8 years of age, and had fundus changes typical of RP including a waxy, pale optic disc, attenuation of retinal arteries and bone-spicule pigment deposits in the mid periphery of the retina as shown in individual 5, a 25-year-old proband in the family XLRP001 (Fig. 4)
The clinical evaluations performed for all affected individuals as well as the obligated female carriers are listed in the supplement Table 1

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Introduction

RP is inherited as an autosomal dominant trait in about 15–20% of families, an autosomal recessive trait in about 20–25% of families, and an X-linked trait in about 10–15% of families, with digenic patterns occurring rarely. X-linked RP (XLRP) is the most severe form of RP in terms of age of onset and progression, with affected males generally showing more severe clinical features than affected females. They usually experience night blindness and loss of dark adaptation in the first decade of life. RPGR (OMIM #312610), RP2 (OMIM #312600), and OFD1 (OMIM #300170) are three genes in which mutations can cause XLRP. Additional genetic loci for XLRP, including RP6 on Xp21.35, RP24 on Xq26. We report molecular genetic analysis of five Chinese families with X-linked RP showing one large deletion in RP2 and four frameshift mutations in RPGR were detected in these five families

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